Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del | ClinVar |
X | g.25004734_25004841del | CA2558513964 | ARX | c.1521_1628del (p.Val508_Ala543del) | |
X | g.25004798_25004839delinsCCGGGTCGGCCAGGGCGCCCGATGCCACTGCGCCCTCCACGG | CA2420205933 | ARX | c.1520_1561delinsCCGTGGAGGGCGCAGTGGCATCGGGCGCCCTGGCCGACCCGG (p.Ala507=) | |
X | g.25004804_25004844del | CA891843837 | ARX | c.1520_1560del (p.Ala507GlyfsTer11) | ClinVar dbSNP |
X | g.25004809_25004824delinsAGGGCGCCCGATGCCA | CA2420205944 | ARX | c.1535_1550delinsTGGCATCGGGCGCCCT (p.Val512=) | |
X | g.25004810_25004824delinsCTGCGCC | CA645373294 | ARX | c.1535_1549delinsGGCGCAG (p.Val512GlyfsTer17) | ClinVar dbSNP |
X | g.25004814_25004815delinsGC | CA2420205946 | ARX | c.1544_1545delinsGC (p.Gly515=) | |
X | g.25004815C>A | CA412610789 | ARX | c.1544G>T (p.Gly515Val) | |
X | g.25004815C>G | CA412610790 | ARX | c.1544G>C (p.Gly515Ala) | |
X | g.25004815C>T | CA412610788 | ARX | c.1544G>A (p.Gly515Asp) | gnomAD v4 |
X | g.25004817del | CA171147 | ARX | c.1544del (p.Gly515AlafsTer18) | ClinVar dbSNP |
X | g.25004816C>A | CA412610791 | ARX | c.1543G>T (p.Gly515Cys) | gnomAD v4 |
X | g.25004816C= | CA2420205947 | ARX | c.1543G= (p.Gly515=) | |
X | g.25004816C>G | CA412610792 | ARX | c.1543G>C (p.Gly515Arg) | |
X | g.25004816C>T | CA412610793 | ARX | c.1543G>A (p.Gly515Ser) | dbSNP |
X | g.25004817C>A | CA515748089 | ARX | c.1542G>T (p.Ser514=) | gnomAD v4 |
X | g.25004817C= | CA2420205948 | ARX | c.1542G= (p.Ser514=) | |
X | g.25004817C>G | CA515748090 | ARX | c.1542G>C (p.Ser514=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25004817C>T | CA515748091 | ARX | c.1542G>A (p.Ser514=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004818G>A | CA412610794 | ARX | c.1541C>T (p.Ser514Leu) | gnomAD v4 |
X | g.25004818G>C | CA412610795 | ARX | c.1541C>G (p.Ser514Trp) | ClinVar dbSNP |
X | g.25004818G= | CA2420205949 | ARX | c.1541C= (p.Ser514=) | |
X | g.25004818G>T | CA412610796 | ARX | c.1541C>A (p.Ser514Ter) | COSMIC |
X | g.25004819A= | CA2420205950 | ARX | c.1540T= (p.Ser514=) | |
X | g.25004819A>C | CA412610797 | ARX | c.1540T>G (p.Ser514Ala) | |
X | g.25004819A>G | CA412610798 | ARX | c.1540T>C (p.Ser514Pro) | gnomAD v4 |
X | g.25004819A>T | CA412610799 | ARX | c.1540T>A (p.Ser514Thr) | dbSNP |
X | g.25004820T>A | CA515748092 | ARX | c.1539A>T (p.Ala513=) | |
X | g.25004820T>C | CA515748093 | ARX | c.1539A>G (p.Ala513=) | |
X | g.25004820T>G | CA515748094 | ARX | c.1539A>C (p.Ala513=) | |
X | g.25004821G>A | CA412610800 | ARX | c.1538C>T (p.Ala513Val) | |
X | g.25004821G>C | CA412610801 | ARX | c.1538C>G (p.Ala513Gly) | |
X | g.25004821G>T | CA412610802 | ARX | c.1538C>A (p.Ala513Glu) | |
X | g.25004822C>A | CA412610805 | ARX | c.1537G>T (p.Ala513Ser) | gnomAD v4 |
X | g.25004822C>G | CA412610803 | ARX | c.1537G>C (p.Ala513Pro) | |
X | g.25004822C>T | CA412610804 | ARX | c.1537G>A (p.Ala513Thr) | gnomAD v4 |
X | g.25004823C>A | CA515748095 | ARX | c.1536G>T (p.Val512=) | |
X | g.25004823C>G | CA515748096 | ARX | c.1536G>C (p.Val512=) | |
X | g.25004823C>T | CA515748097 | ARX | c.1536G>A (p.Val512=) | gnomAD v4 |
X | g.25004824A>C | CA412610806 | ARX | c.1535T>G (p.Val512Gly) | |
X | g.25004824A>G | CA412610807 | ARX | c.1535T>C (p.Val512Ala) | |
X | g.25004824A>T | CA412610808 | ARX | c.1535T>A (p.Val512Glu) | |
X | g.25004825C>A | CA412610809 | ARX | c.1534G>T (p.Val512Leu) | gnomAD v4 |
X | g.25004825C= | CA2420205951 | ARX | c.1534G= (p.Val512=) | |
X | g.25004825C>G | CA412610810 | ARX | c.1534G>C (p.Val512Leu) | dbSNP |
X | g.25004825C>T | CA412610811 | ARX | c.1534G>A (p.Val512Met) | |
X | g.25004826T>A | CA515748098 | ARX | c.1533A>T (p.Ala511=) | |
X | g.25004826T>C | CA515748099 | ARX | c.1533A>G (p.Ala511=) | ClinVar dbSNP gnomAD v4 |
X | g.25004826T>G | CA515748100 | ARX | c.1533A>C (p.Ala511=) | |
X | g.25004826T= | CA2420205952 | ARX | c.1533A= (p.Ala511=) |